Variant report

Variant	rs2303635
Chromosome Location	chr3:134086356-134086357
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:134086294-134086704	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr3:134086340-134086490	AG09309	skin:	n/a	n/a
3	CTCF	chr3:134086280-134086430	BJ	skin:	n/a	n/a
4	CTCF	chr3:134086280-134086430	RPTEC	kidney:	n/a	n/a
5	POLR2A	chr3:134085811-134086737	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr3:134086133-134086627	HCT-116	colon:	n/a	n/a
7	CTCF	chr3:134086300-134086450	HBMEC	blood vessel:	n/a	n/a
8	POLR2A	chr3:134085920-134086750	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr3:134086320-134086470	HA-sp	spinal cord:	n/a	n/a
10	CTCF	chr3:134086300-134086450	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr3:134086340-134086490	GM12864	blood:	n/a	n/a
12	CTCF	chr3:134086271-134086455	A549	lung:	n/a	n/a
13	CTCF	chr3:134086280-134086430	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr3:134086327-134086471	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr3:134086260-134086410	AG10803	skin:	n/a	n/a
16	CTCF	chr3:134086220-134086370	GM12873	blood:	n/a	n/a
17	RAD21	chr3:134086247-134086534	SK-N-SH_RA	brain:	n/a	n/a
18	POLR2A	chr3:134079921-134092871	ECC-1	luminal epithelium:	n/a	n/a
19	TCF12	chr3:134085665-134086702	ECC-1	luminal epithelium:	n/a	chr3:134085835-134085842 chr3:134085833-134085843
20	CTCF	chr3:134086340-134086490	HRPEpiC	eye:	n/a	n/a
21	CTCF	chr3:134086240-134086390	GM06990	blood:	n/a	n/a
22	CTCF	chr3:134086342-134086425	GM12878	blood:	n/a	n/a
23	POLR2A	chr3:134081387-134089755	HUVEC	blood vessel:	n/a	n/a
24	TCF12	chr3:134085256-134086392	SK-N-SH	brain:	n/a	chr3:134085835-134085842 chr3:134085833-134085843
25	CTCF	chr3:134086260-134086410	GM12871	blood:	n/a	n/a
26	RAD21	chr3:134086118-134086603	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr3:134086280-134086430	AG10803	skin:	n/a	n/a
28	CTCF	chr3:134086348-134086412	K562	blood:	n/a	n/a
29	CTCF	chr3:134086320-134086470	HMF	breast:	n/a	n/a
30	CTCF	chr3:134086236-134086493	K562	blood:	n/a	n/a
31	CTCF	chr3:134086217-134086579	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr3:134086220-134086370	GM12864	blood:	n/a	n/a
33	POLR2A	chr3:134081902-134086764	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr3:134086324-134086441	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr3:134086320-134086470	RPTEC	kidney:	n/a	n/a
36	CHD1	chr3:134070900-134094634	IMR90	lung:	n/a	chr3:134093783-134093793 chr3:134092557-134092567 chr3:134083055-134083065
37	CTCF	chr3:134086260-134086410	HPAF	blood vessel:	n/a	n/a
38	CTCF	chr3:134086300-134086450	AG04449	skin:	n/a	n/a
39	POLR2A	chr3:134086008-134086841	HepG2	liver:	n/a	n/a
40	POLR2A	chr3:134081290-134088706	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr3:134086261-134086553	K562	blood:	n/a	n/a
42	RAD21	chr3:134086235-134086545	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr3:134086140-134086390	GM12870	blood:	n/a	n/a
44	POLR2A	chr3:134086263-134086767	H1-neurons	neurons:	n/a	n/a
45	CTCF	chr3:134086250-134086439	HepG2	liver:	n/a	n/a
46	CTCF	chr3:134086320-134086470	GM12864	blood:	n/a	n/a
47	RAD21	chr3:134086175-134086537	HepG2	liver:	n/a	n/a
48	EP300	chr3:134085043-134086736	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr3:134086280-134086430	NHEK	skin:	n/a	n/a
50	RAD21	chr3:134086113-134086632	HCT-116	colon:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134085828..134088665-chr3:134170796..134172844,2	MCF-7	breast:
2	chr3:134026974..134027562-chr3:134085957..134086628,2	MCF-7	breast:
3	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:
4	chr3:134086152..134088581-chr3:134189583..134191121,2	MCF-7	breast:

No data

Variant related genes	Relation type
AMOTL2	TF binding region
ENSG00000240006	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10755085	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs10755086	0.82[ASN][1000 genomes]
rs1111516	0.88[CHB][hapmap]
rs12496438	0.82[ASN][1000 genomes]
rs13094988	1.00[JPT][hapmap]
rs1353776	0.89[CHB][hapmap]
rs1353778	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs2400273	0.86[CHB][hapmap]
rs2400278	0.88[CHB][hapmap]
rs2400279	0.88[CHB][hapmap]
rs3732852	0.88[CHB][hapmap]
rs3755762	0.82[ASN][1000 genomes]
rs3773820	0.88[CHB][hapmap]
rs3821705	0.89[CHB][hapmap]
rs4974494	0.88[CHB][hapmap]
rs4974495	0.88[CHB][hapmap]
rs4974496	0.88[CHB][hapmap]
rs4974498	1.00[CHB][hapmap]
rs6439477	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134069200-134090000	Genic enhancers	Fetal Muscle Trunk	muscle
2	chr3:134069400-134089800	Genic enhancers	Fetal Muscle Leg	muscle
3	chr3:134070400-134088200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:134071000-134088800	Enhancers	Right Atrium	heart
5	chr3:134072200-134090200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:134072400-134091200	Genic enhancers	Spleen	Spleen
7	chr3:134072800-134090600	Genic enhancers	Left Ventricle	heart
8	chr3:134073000-134089400	Genic enhancers	HMEC	breast
9	chr3:134073400-134091400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:134074400-134089400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:134075000-134090400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:134076800-134088600	Genic enhancers	NHDF-Ad	bronchial
13	chr3:134077600-134088000	Genic enhancers	NH-A	brain
14	chr3:134078800-134090400	Genic enhancers	Liver	Liver
15	chr3:134079400-134089600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:134081400-134090600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:134081600-134091000	Enhancers	Psoas Muscle	Psoas
18	chr3:134082000-134086800	Genic enhancers	Fetal Lung	lung
19	chr3:134082000-134089800	Genic enhancers	Placenta Amnion	Placenta Amnion
20	chr3:134082000-134090800	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:134082000-134090800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:134082000-134091000	Genic enhancers	Fetal Stomach	stomach
23	chr3:134082200-134090200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:134082200-134092800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:134082400-134091400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:134082800-134088000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:134083000-134087200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:134083000-134087800	Genic enhancers	Muscle Satellite Cultured Cells	--
29	chr3:134083000-134088400	Genic enhancers	Right Ventricle	heart
30	chr3:134083000-134088600	Genic enhancers	NHLF	lung
31	chr3:134083000-134089400	Genic enhancers	Colon Smooth Muscle	Colon
32	chr3:134083200-134089600	Genic enhancers	Placenta	Placenta
33	chr3:134083400-134089200	Genic enhancers	NHEK	skin
34	chr3:134083600-134087800	Genic enhancers	Osteobl	bone
35	chr3:134083600-134089000	Genic enhancers	HSMMtube	muscle
36	chr3:134083600-134089800	Genic enhancers	Brain Angular Gyrus	brain
37	chr3:134083600-134090000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr3:134083600-134090800	Genic enhancers	Fetal Intestine Large	intestine
39	chr3:134083800-134086400	Genic enhancers	Rectal Smooth Muscle	rectum
40	chr3:134083800-134086600	Genic enhancers	H1 Cell Line	embryonic stem cell
41	chr3:134083800-134086600	Genic enhancers	Colonic Mucosa	Colon
42	chr3:134083800-134087000	Genic enhancers	HUVEC	blood vessel
43	chr3:134083800-134087600	Genic enhancers	Adipose Nuclei	Adipose
44	chr3:134083800-134087800	Genic enhancers	HSMM	muscle
45	chr3:134083800-134088000	Genic enhancers	Gastric	stomach
46	chr3:134083800-134088400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
47	chr3:134083800-134088800	Genic enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:134083800-134090000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:134084000-134087800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:134084000-134088400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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